ClinVar Miner

Submissions for variant NM_022173.4(TIA1):c.1156del (p.Gln386fs) (rs1553422555)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546022 SCV000630377 uncertain significance Welander distal myopathy 2016-09-04 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotides from exon 13 of the TIA1 mRNA (c.1156delC), causing a frameshift at codon 386. This creates a translational stop signal in the 3' UTR of the TIA1 mRNA (p.Gln386Serfs*3). While this is not anticipated to result in nonsense mediated decay, it is expected to result in deletion of the last amino acid and replacing it with 2 incorrect amino acids and disrupted protein product. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TIA1-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TIA1 cause disease. Therefore, this variant has been classified as a Variant of Uncertain Significance.

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